Canonical Allele Identifier: CA624455297

Gene: MC1R

Linked Data

• dbSNP Id: rs1370851847
• gnomAD v2: 16-89986103-TC-T
• gnomAD v4: 16-89919695-TC-T
• MyVariant Identifiers: chr16:g.89986104del (hg19) ; chr16:g.89919696del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919696del , CM000678.2:g.89919696del	GRCh38
NC_000016.9:g.89986104del , CM000678.1:g.89986104del	GRCh37
NC_000016.8:g.88513605del	NCBI36
NG_012026.1:g.6818del
NG_027810.1:g.2688del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.438del MANE Select	ENSP00000451605.1:p.Phe147SerfsTer10
ENST00000639847.1:c.438del	ENSP00000492011.1:p.Phe147SerfsTer10
ENST00000555147.1:c.438del	ENSP00000451605.1:p.Phe147SerfsTer10
ENST00000555427.1:c.438del	ENSP00000451760.1:p.Phe147SerfsTer10
ENST00000556922.1:c.438del	ENSP00000451560.1:p.Phe147SerfsTer10
NM_002386.3:c.438del	NP_002377.4:p.Phe147SerfsTer10
NM_002386.4:c.438del MANE Select	NP_002377.4:p.Phe147SerfsTer10